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Spondyloenchondrodysplasia with immune dysregulation

MONDO:0011939

Also known as: Roifman Immunoskeletal syndrome, SPENCD, SPENCDI, Spondyloenchondrodysplasia with immune dysregulation, combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, spondyloenchondrodysplasia, spondyloenchondrodysplasia with immune dysregulation, spondyloenchondromatosis

12 clinical trials for this condition and its sub-types, 0 tagged with Spondyloenchondrodysplasia with immune dysregulation itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disorder of connective tissue (1314) ↑ Type 1 interferonopathy of childhood (19) ↑ Spondylometaphyseal dysplasia (0)

Including sub-types (12) Tagged with Spondyloenchondrodysplasia with immune dysregulation (0)

Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2

New pill aims to tame rare immune diseases

Disease control Ongoing

This early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…

Phase 1 • Sponsor: Boehringer Ingelheim • Aim: Disease control

Last updated Sep 17, 2026 00:00 UTC